| Variant ID | 2814 |
|---|---|
| Entrez Gene ID | 7799 |
| Gene | PRDM2 (GeneCards) |
| Location | hg19 1:14541188-14541188
hg38 1:14214693-14214693 |
| Disease | Xeroderma Pigmentosum (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000001.10:g.14541188 T>G (Genome Assembly: GRCh37) |
| Exon or Intron | NA |
|---|---|
| Position in protein | NA |
| Amino acid changes in protein | NA > NA |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 249250621 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.2218 |
| CADD Raw score (version 1.3) | 0.127003 (Deleterious) |
| FATHMM raw prediction score | 0.08197 (Tolerated) |
| Deleterious probability by DeFine | 0.4106 (Neutral) |
| Entrez Gene ID | 7799 (NCBI Gene) |
|---|---|
| Official Gene Symbol | PRDM2 (GeneCards) |
| Number of variants in PRDM2 in this database | 8 (view all the variants) |
| Full name | PR/SET domain 2 |
| Band | 1p36.21 |
| Other IDs | Vega: OTTHUMG00000007917 OMIM: 601196 HGNC: HGNC:9347 Ensembl: ENSG00000116731 |
| Other names | RIZ, KMT8, RIZ1, RIZ2, KMT8A, MTB-ZF, HUMHOXY1 |
| Summary | This tumor suppressor gene is a member of a nuclear histone/protein methyltransferase superfamily. It encodes a zinc finger protein that can bind to retinoblastoma protein, estrogen receptor, and the TPA-responsive element (MTE) of the heme-oxygenase-1 gene. Although the functions of this protein have not been fully characterized, it may (1) play a role in transcriptional regulation during neuronal differentiation and pathogenesis of retinoblastoma, (2) act as a transcriptional activator of the heme-oxygenase-1 gene, and (3) be a specific effector of estrogen action. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008] |
| Individual ID | 29217584.23 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Female Patient |
| Phenotype | 3 |
| Disease | Xeroderma Pigmentosum (view all the variants in this disease) |
| OMIM ID | 278700 |
| Pubmed ID | 29217584 |
|---|---|
| Title | Aging and neurodegeneration are associated with increased mutations in single human neurons. |
| Journal | Science |
| Publication date | 2018.02 |
| Disease | Cockayne syndrome Xeroderma Pigmentosum |
| Number of cases | Male cases: 3; Female cases: 6; cases of unknown sex: 15; |